Mutations in Result in Ocular Coloboma, Microcornea and Cataracts

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Coloboma is a hole or gap in one or more of the structures of the eye. Coloboma occurs when the eye is not formed properly during prenatal development. It is often associated with additional eye abnormalities and can result in significant loss of vision. Identification of the genetic causes of coloboma provides more information about how the eye develops. We used whole exome sequencing in an affected family to identify mutations in a new gene associated with dominant coloboma in humans, MAB21L2. We used genome editing to disrupt the mab21l2 gene in zebrafish, which led to similar eye conditions in affected fish, providing additional evidence for the role of this gene in eye development. The function of MAB21L2 is largely unknown; further study of the pathways affected by MAB21L2 deficiency and study of the zebrafish generated by this project will provide more information about the role of this gene in eye development.

Vyšlo v časopise: Mutations in Result in Ocular Coloboma, Microcornea and Cataracts. PLoS Genet 11(2): e32767. doi:10.1371/journal.pgen.1005002
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005002

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